What you need to know

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease with a variable spectrum of severity and extent of extrarenal complications

For adults with a family history of ADPKD, criteria for diagnostic screening with ultrasound exist, although repeat screening may be required for younger adults if they had an initially negative scan

Hypertension is the earliest manifestation of ADPKD and is preferentially managed with ACE inhibitors or angiotensin receptor antagonists

For at-risk individuals and affected patients, the 50% risk of inheriting ADPKD or passing it on to offspring is associated with uncertainty and a psychosocial burden

A new therapy (tolvaptan) to delay disease progression is available for use in selected patients in some countries after specialist assessment

What is polycystic kidney disease?

Polycystic kidney disease (PKD) is an inherited condition defined by the pathological development of fluid-filled cysts throughout the kidneys leading to organ enlargement (fig 1⇓) and chronic kidney disease. Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited kidney disease1 and is the fourth commonest cause of kidney failure worldwide.2 Autosomal recessive PKD is a rare disease usually identified antenatally or during the neonatal period by enlarged echogenic kidneys on ultrasound.3 This review will focus on ADPKD.

Sources and selection criteria

I searched PubMed, Clinical Evidence, and the Cochrane Library for primary and review articles available in English until October 2015. Articles included systematic reviews, randomised clinical trials, and observational studies. The following search terms were used in isolation and combination: “ADPKD,” “polycystic kidney disease,” “progression,” “treatment,” “humans,” “complications,” “mutations.” I identified additional references from my personal archive. Where evidence based medicine was not available, published expert opinion was referenced.

Who gets ADPKD?

ADPKD presents to a variety of doctors and is more prevalent than the combination …